Paula and Bobby
Parents of Lillie
Miller-Dieker Lissencephaly syndrome
What is Miller-Dieker Lissencephaly syndrome?
It is a rare genetic syndrome. The main condition of the syndrome is lissencephaly, abnormal brain development that leads to the development of a brain without the normal folds and grooves. Instead the brain is smooth. This in turn causes many of the main symptoms of the syndrome. The severity of the syndrome depends on how smooth the brain is.
What gene changes cause Miller-Dieker Lissencephaly syndrome?
The syndrome is caused by a deletion of genetic material on or near the short arm of chromosome 17p13.3. The size of this deletion varies between individuals, and the size of the deletion may explain why some affected individuals have more severe symptoms than others.
The syndrome can be inherited in an autosomal dominant pattern but most cases are the result of de novo or new deletions that occur during reproduction.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Miller-Dieker Lissencephaly syndrome?
Lissencephaly is the main symptom of the syndrome.That affects the cerebral cortex of the exterior surface of the brain. The abnormal development caused by the syndrome leads to a brain with less folds and grooves than usual and a smoother brain as a result.
This abnormal brain development triggers further symptoms. These include severe intellectual disability and developmental delay. Seizures, muscle stiffness, low muscle tone and issues with feeding are amongst these symptoms.
Unique facial features of the syndrome include a prominent forehead, a sunken middle of the face, a small nose, low set and abnormally shaped ears, a small jaw and a thick upper lip. In some individuals slower growth is recorded.
How does someone get tested for Miller-Dieker Lissencephaly syndrome?
The initial testing for Miller-Dieker Lissencephaly syndromet 5 can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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